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Table 3 Significantly Overrepresented Synthesis-Group Phenotypes

From: Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

HPO ID

Term Name

Synthesis Group (patients with phenotype/total)

Synthesis Group (%)

Transamidase + Remodeling Group (patients with phenotype/total)

Transamidase + Remodeling Group (%)

Corrected p-value

HP:0011297

Abnormality of digit

31/93

33.3

4/59

6.8

0.03185

HP:0011805

Abnormal muscle morphology

25/93

26.9

2/59

3.4

0.04678

HP:0011927

Short digit

22/93

23.7

1/59

1.7

0.04883

HP:0001367

Abnormal joint morphology

22/93

23.7

1/59

1.7

0.04883

HP:0100261

Abnormal tendon morphology

19/93

20.4

0/59

0.0

0.04346